Symptoma

Hardikar Syndrome

Cholestasis - Pigmentary Retinopathy - Cleft Palate

The jejunal web or a rotation anomaly of the gut is frequently present, as are several cardiac endocardial cushion abnormalities. Mental disorders are present in about two thirds of cases. [journals.lww.com]

Rotation anomalies of the gut and cardiac abnormalities are frequently present. Pathogenesis remains obscure. Our patient was delivered at 33 weeks of gestation by cesarean section, and was jaundiced, with low birth weight and height. [ncbi.nlm.nih.gov]

Jaundice, present from the first week of life resolved by 7 weeks; however hepatosplenome- galy and abnormal liver function tests persisted. [docslide.com.br]

Hardikar syndrome: a new syndrome with cleft lip/palate, pigmentary retinopathy and cholestasis Authors: Cools, Filip Jaeken, Jacques # Issue Date: Sep-1997 Series Title: American Journal of Medical Genetics vol:71 issue:4 pages:472-4 Abstract: We present [lirias.kuleuven.be]

Jaundice, present from the first week oflife resolved by 7 weeks; however hepatosplenome-galy and abnormal liver function tests persisted. [documents.tips]

  • Splenomegaly

    pigmentary retinopathy, portal hypertension (raised pressure within the portal system, including the portal vein and the tributary veins), pruritus, pulmonary artery stenosis (narrowing of the pulmonary artery), recurrent urinary tract infections, splenomegaly [xpertdox.com]

    0000989 Pulmonary artery stenosis Narrowing of lung artery 0004415 Recurrent urinary tract infections Frequent urinary tract infections Urinary infection Urinary tract infection Urinary tract infections Urinary tract infections, recurrent [ more ] 0000010 Splenomegaly [rarediseases.info.nih.gov]

  • Poor Growth

    growth Retarded growth [ more ] 0001510 Hearing impairment Deafness Hearing defect [ more ] 0000365 Hepatomegaly Enlarged liver 0002240 Hydronephrosis 0000126 Hydroureter 0000072 Hyperbilirubinemia High blood bilirubin levels 0002904 Intestinal malrotation [rarediseases.info.nih.gov]

  • Coarctation of the Aorta

    Recently, at the age of 14 years, during an evaluation for refractory hypertension, she was found to have developed coarctation of the aorta that was treated with aortic angioplasty and stenting, dramatically improving her hypertension. [ncbi.nlm.nih.gov]

    Patients may also present with ventricular septal defects, atrial septal defects, patent ductus arteriosus and coarctation of the aorta. [en.wikipedia.org]

    Additional heart defects that can occur in Alagille syndrome include ventricular septal defects, atrial septal defects, patent ductus arteriosus, and coarctation of the aorta. [rarediseases.org]

  • Fatigue

    Research output : Contribution to journal › Article › Research › peer-review A discrete element modelling approach for fatigue damage growth in cemented materials Nguyen, N. H. T., Bui, H. [monash.edu]

    Deletion Syndrome Chromosome 4q- Syndrome chromosome 5q deletion syndrome Chromosome 6 Ring Syndrome Chromosome 7 Ring Syndrome Chromosome Xp11.3 Deletion Syndrome Chromosome Xq Duplication Syndrome chronic atrial and intestinal dysrhythmia chronic fatigue [rgd.mcw.edu]

  • Failure to Thrive

    […] to thrive, delayed growth, hearing impairment, hepatomegaly, hydronephrosis (swelling of a kidney due to a back-up of urine), hydroureter (dilation of the ureter), ectopic ureteric insertion, hyperbilirubinemia, intestinal malrotation, jaundice, mottled [xpertdox.com]

    […] lip and palate, pigmentary retinopathy (breakdown of the light-sensing tissue at the back of the eye), and congenital heart defects. 0001680 Congenital onset Symptoms present at birth 0003577 Elevated hepatic transaminase High liver enzymes 0002910 Failure [rarediseases.info.nih.gov]

  • Nausea

    Pravin Soyam, 23, was in perfect health when he suddenly developed a chest pain, followed by vomiting and nausea. Then, he became completely disoriented. He died a day later, on 27 September, at a government hospital. [bbc.co.uk]

  • Eczema

    Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy Growth Mental Deficiency Syndrome of Myhre GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY Growth Retardation, Small and Puffy Hands and Feet, and Eczema [rgd.mcw.edu]

  • Hyperreflexia

    […] syndrome associated with ocular colobomas, cleft palate, and genital, skeletal, and craniofacial abnormalities A syndrome of microcephaly and retinal pigmentary abnormalities without mental retardation in a family with coincidental autosomal dominant hyperreflexia [documentslide.com]

  • Cesarean Section

    Our patient was delivered at 33 weeks of gestation by cesarean section, and was jaundiced, with low birth weight and height. On day 5 after birth, the patient underwent Ladd's surgery for intestinal malrotation. [ncbi.nlm.nih.gov]

    CASE REPORT The patient is a girl delivered at 33 weeks of gestation by cesarean section to a gravid I, para I, abortive 0, 20-year-old healthy, type O-blood group mother. [journals.lww.com]

Here we report on a 31-year-old male patient who presented with elevated serum alkaline phosphatase and gamma-glutamyl transpeptidase, and was diagnosed with AGS associated with the JAG1 mutation after a comprehensive workup. [medworm.com]

Treatment Please input treatment information here. You can also add sub-section(s) at will. Labs working on this disease Please input related labs here. References Please input treatment information here. [pediascape.org]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Review the latest developments in the field and get up-to-date clinical information on hot topics like polyps, capsule endoscopy, and pancreatic treatments. [books.google.com]

Treatment - Hardikar syndrome Not supplied. Resources - Hardikar syndrome Not supplied. [checkorphan.org]

Prognosis - Hardikar syndrome Not supplied. Treatment - Hardikar syndrome Not supplied. Resources - Hardikar syndrome Not supplied. [checkorphan.org]

Prognosis Although morbidity is significant, prognosis is quite favorable. Life expectancy is somewhat dependent on cardiac and immunologic complications. The documents contained in this web site are presented for information purposes only. [orpha.net]

The prognosis of liver disease in Alagille syndrome is worse in children who present with neonatal cholestatic jaundice ( 7 ). Patients with Alagille syndrome have facial features distinctly different from Hardikar syndrome ( 1,2 ). [journals.lww.com]

"Features of Alagille syndrome in 92 patients: frequency and relation to prognosis". Hepatology. 29 (3): 822–9. doi : 10.1002/hep.510290331. PMID 10051485. Sijmons RH (2008). "Encyclopaedia of tumour-associated familial disorders. [en.wikipedia.org]

Hardikar syndrome is a rare disorder of unknown etiology. Features of the syndrome are manifold with a predominance of liver and renal involvement. [ncbi.nlm.nih.gov]

Synonyms cholestasis - pigmentary retinopathy - cleft palate hardikar syndrome Etiology Please input defination information here. Diagnosis Please input defination information here. Symptoms Please input defination information here. [pediascape.org]

Part A DOI: 10.1002/ajmg.a.32226 Hardikar syndrome is a rare disorder of unknown etiology. Features of the syndrome are manifold with a predominance of liver and renal involvement. [semanticscholar.org]

Herein, we discuss this additional clinical information, speculate briefly on possible molecular etiologies, and discuss potential cardiac surveillance recommendations. [ingentaconnect.com]

Our study provides a snapshot of the epidemiology of BA in Saudi Arabia that is characterized by late referral to pediatric gastroenterologists and poor outcome without LT. [medworm.com]

Summary Epidemiology KS was initially described in Japan, but has now been observed in all ethnic groups. Prevalence estimation is approximately 1:32,000. Clinical description KS has a wide and variable clinical spectrum. [orpha.net]

Efforts are ongoing to uncover the epidemiology and etiology of this condition. [frontiersin.org]

[…] cerebral arterial and venous abnormalities in Alagille syndrome. ( 29362841 ) Carpenter CD...Abruzzo T 2018 8 A New Model of Alagille Syndrome With Broad Phenotypic Representation. ( 29425927 ) Adams JM...Jafar-Nejad H 2018 9 Systematic Review: The Epidemiology [malacards.org]

Pathophysiology [ edit ] JAG1 encodes a ligand critical to the notch gene–signaling cascade that is important in fetal development. [en.wikipedia.org]

Pathophysiology of gastro-esophageal reflux disease: a role for mucosa integrity? Neurogastroenterol Motil 2013; 25: 783-799. Helm JF, Dodds WJ, Hogan WJ, Soergel KH, Egide MS, Wood CM. Acid neutralizing capacity of human saliva. [intramed.net]

Prevention - Hardikar syndrome Not supplied. Diagnosis - Hardikar syndrome The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Hardikar syndrome. [checkorphan.org]

To prevent irreversible, extensive tissue damage and permanent disability fasciotomy must be performed immediately after the diagnosis is made. [thieme-connect.com]

[…] graft rejection Azathioprine: synthetic drug that suppresses the body's immune responses, widely used during and after transplant surgery to prevent rejection of the transplanted organ. [down-syndrome.org]

Hot water fermentation will help Knee cap will also help to prevent the damaged cartilages. If your pain is more in the distal joints, ie. [lybrate.com]

The generally mild mental handicap of these patients could be worsened by poor vision, which could be prevented in some cases by adequate treatment and follow-up at an early age. [14] A multidisciplinary management of these patients is crucial because [eyewiki.aao.org]